17q12 Knowledge Basedeletion syndrome · static snapshot
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Phenotype expansion learning, speech and behaviour 1 supporting source confidence 97% novelty 90%

New observation reported: Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validat…

A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”

More phenotype expansion

How this was derived

Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.

Generated 2026-11-13, last changed today. Dedup key expansion:0ba79a. The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.

Evidence (1 quote)

Identification of novel driver risk genes in CNV loci associated with neurodevelopmental disorders peer_reviewed · published 2024-01-01 · live page
Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.

Supporting documents (1)

DocumentSourcePublishedSeenRelevance
Identification of novel driver risk genes in CNV loci associated wi... pmc 2024-01-01 yesterday 0.45